view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT | G | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0167 others(9): Show |
12 | 18 | 0.6667 | -7 | c.184 others(26): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42863380 | CAAGCCTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0138 others(36): Show |
39 | 268 | 0.1455 | -7 | c.245 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 12/12 | chr6 | TogoVar | |||||||
BICRA_chr19_47604134_47708277 | 47615590 | GTTCATAT | G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0006a0001c0008t0006others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0104 others(23): Show |
26 | 310 | 0.0839 | -7 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
BICRA_chr19_47604134_47708277 | 47659731 | CACGTTCT | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02976.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0006others(2): Show | a0001c0001t0001g0114 a0001c0001t0001g0262 a0001c0001t0001g0278 others(5): Show |
8 | 310 | 0.0258 | -7 | c.-10 others(28): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
BID_chr22_17729138_17779469 | 17742470 | TCCCCCCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(62): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0022 others(59): Show |
65 | 358 | 0.1816 | -7 | c.223 others(24): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 3/5 | chr22 | TogoVar | |||||||
BID_chr22_17729138_17779469 | 17756425 | TTTCTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0029 others(21): Show |
24 | 360 | 0.0667 | -7 | c.-58 others(24): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127107556 | CGCCCGGT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 others(228): Show |
240 | 342 | 0.7018 | -7 | c.-62 others(16): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 403 | chr2 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22619565 | GGCAGTCC | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00733.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0011others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0201 others(44): Show |
51 | 383 | 0.1332 | -7 | c.*18 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 852 | chr8 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32354830 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0001a0001c0009t0001a0001c0012t0001 | a0001c0001t0001g0057 a0001c0001t0001g0196 a0001c0001t0001g0197 others(7): Show |
10 | 241 | 0.0415 | -7 | c.-23 others(18): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 2192 | chr2 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32369946 | ATATATAT | A | intron_variant | MODIFIER | HG01496.hp1 HG02015.hp1 HG02280.hp1 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0009a0001c0011a0001c0021others(4): Show | a0001c0009t0001a0001c0011t0001a0001c0021t0001others(4): Show | a0001c0009t0001g0027 a0001c0011t0001g0215 a0001c0011t0001g0217 others(9): Show |
12 | 229 | 0.0524 | -7 | c.326 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | chr2 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32430805 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 others(2): Show |
5 | 180 | 0.0278 | -7 | c.302 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 11/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0002 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0007t0002g0019 others(4): Show |
7 | 80 | 0.0875 | -7 | c.475 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG01934.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0014others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 others(15): Show |
18 | 21 | 0.8571 | -7 | c.740 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32604858 | TTTTTTTC | T | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp2 HG02559.hp2 others(7): Show |
a0001a0008a0010 | a0001c0007a0001c0030a0008c0029others(1): Show | a0001c0007t0002a0001c0007t0003a0001c0030t0002others(2): Show | a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0020 others(7): Show |
10 | 271 | 0.0369 | -7 | c.140 others(28): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 71/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32616560 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0009 | a0001c0003a0001c0010a0002c0002others(6): Show | a0001c0003t0001a0001c0010t0001a0002c0002t0001others(6): Show | a0001c0003t0001g0137 a0001c0010t0001g0096 a0001c0010t0001g0141 others(41): Show |
44 | 138 | 0.3188 | -7 | c.143 others(28): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 73/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLCAP_chr20_37512417_37532876 | 37529544 | TTTCAGGA | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01975.hp1 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0067 |
5 | 402 | 0.0124 | -7 | c.-19 others(18): Show |
BLCAP | ENSG00000166619.15 | transcript | ENST00000373537.7 | protein_coding | 1669 | chr20 | TogoVar | |||||||
BLMH_chr17_30243203_30296944 | 30295683 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02683.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show |
6 | 278 | 0.0216 | -7 | c.-38 others(18): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 3740 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90785998 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011a0001c0025 | a0001c0001t0001a0001c0011t0001a0001c0011t0002others(2): Show | a0001c0001t0001g0072 a0001c0001t0001g0273 a0001c0011t0001g0014 others(3): Show |
6 | 241 | 0.0249 | -7 | c.282 others(24): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276310 | CTCTCCCG | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01934.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 others(9): Show |
15 | 376 | 0.0399 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276355 | CTCTCCCG | C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 a0001c0001t0004g0175 |
3 | 376 | 0.0080 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276368 | CTCTCCCG | C | intron_variant | MODIFIER | HG00423.hp2 HG02083.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0008 | a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0137 others(5): Show |
10 | 373 | 0.0268 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276381 | CTCTCCCG | C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 a0001c0001t0004g0175 |
3 | 370 | 0.0081 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8055525 | TTATCCTC | T | intron_variant | MODIFIER | NA18967.hp2 NA18973.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0239 |
3 | 362 | 0.0083 | -7 | c.195 others(24): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100121354 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(12): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0042 a0003c0002t0001g0043 a0003c0002t0001g0044 others(12): Show |
15 | 115 | 0.1304 | -7 | c.45- others(24): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13284257 | TATATATA | T | intron_variant | MODIFIER | HG01891.hp1 HG02293.hp2 HG04199.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0181 a0001c0001t0001g0184 others(4): Show |
7 | 283 | 0.0247 | -7 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13284264 | ATATTTTT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0228 others(7): Show |
10 | 192 | 0.0521 | -7 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15534286 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01516.hp2 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0251 a0001c0001t0001g0281 a0001c0001t0001g0283 others(3): Show |
6 | 227 | 0.0264 | -7 | c.230 others(26): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMI1_chr10_22316099_22336484 | 22316220 | AGCTGGAC | A | upstream_gene_variant | MODIFIER | HG01975.hp2 HG02896.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0021 a0001c0001t0008g0011 |
4 | 244 | 0.0164 | -7 | c.-54 others(18): Show |
BMI1 | ENSG00000168283.14 | transcript | ENST00000376663.8 | protein_coding | 4878 | chr10 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759144 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0033others(2): Show | a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0267 others(6): Show |
9 | 84 | 0.1071 | -7 | c.110 others(22): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759177 | AAAAAAAC | A | intron_variant | MODIFIER | HG01934.hp2 HG01943.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0022a0001c0003t0028others(1): Show | a0001c0003t0001g0173 a0001c0003t0001g0176 a0001c0003t0001g0184 others(5): Show |
8 | 318 | 0.0252 | -7 | c.110 others(22): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7807913 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0009a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0009g0055 a0001c0002t0001g0148 a0001c0002t0002g0110 others(10): Show |
13 | 179 | 0.0726 | -7 | c.665 others(26): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7822895 | GGTTGTGT | G | intron_variant | MODIFIER | HG01891.hp1 NA18522.hp2 NA19043.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0013a0001c0001t0022others(2): Show | a0001c0001t0009g0055 a0001c0001t0013g0054 a0001c0001t0022g0045 others(2): Show |
5 | 280 | 0.0179 | -7 | c.665 others(26): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57207811 | GTTTTTTT | G | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0070 others(11): Show |
14 | 92 | 0.1522 | -7 | c.612 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57221811 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG03209.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0217 a0001c0001t0002g0004 others(4): Show |
8 | 77 | 0.1039 | -7 | c.611 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39494334 | CTTTCTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG03195.hp1 |
a0007a0015a0017 | a0007c0024a0015c0022a0017c0023 | a0007c0024t0056a0015c0022t0025a0017c0023t0025 | a0007c0024t0056g0108 a0015c0022t0025g0109 a0017c0023t0025g0110 |
3 | 360 | 0.0083 | -7 | c.334 others(24): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34011583 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(2): Show | a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0003g0215 others(6): Show |
9 | 179 | 0.0503 | -7 | c.577 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065241 | TCTCTCTC | T | intron_variant | MODIFIER | HG03704.hp1 HG03704.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0046 a0001c0002t0001g0182 a0001c0002t0001g0209 others(1): Show |
4 | 229 | 0.0175 | -7 | c.107 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34079921 | CTGTTACT | C | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0004 | a0001c0001t0001g0230 a0001c0001t0003g0023 a0001c0001t0003g0030 others(3): Show |
6 | 230 | 0.0261 | -7 | c.140 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03654.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0001c0002t0063a0002c0001t0005 | a0001c0002t0006g0164 a0001c0002t0006g0208 a0001c0002t0063g0209 others(2): Show |
5 | 210 | 0.0238 | -7 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86845358 | CTGAGACA | C | intron_variant | MODIFIER | HG03239.hp2 HG03654.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0063a0001c0002t0066a0001c0002t0069others(1): Show | a0001c0002t0063g0209 a0001c0002t0066g0206 a0001c0002t0069g0207 others(1): Show |
4 | 276 | 0.0145 | -7 | c.-15 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86884394 | ATTTTTTT | A | intron_variant | MODIFIER | HG01192.hp1 HG03195.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0023a0001c0002t0051 | a0001c0002t0006g0011 a0001c0002t0006g0127 a0001c0002t0006g0169 others(2): Show |
5 | 28 | 0.1786 | -7 | c.68- others(22): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86906723 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01928.hp2 others(7): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0001t0005a0002c0004t0002 | a0002c0001t0001g0150 a0002c0001t0001g0185 a0002c0001t0001g0210 others(7): Show |
10 | 191 | 0.0524 | -7 | c.531 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86919691 | GTTTGTTT | G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0020a0001c0003t0056a0001c0003t0058others(2): Show | a0001c0003t0020g0157 a0001c0003t0020g0158 a0001c0003t0020g0159 others(4): Show |
7 | 276 | 0.0254 | -7 | c.116 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94872473 | AGAAGTAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0007g0012 others(14): Show |
17 | 224 | 0.0759 | -7 | c.-18 others(26): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95121721 | TAAGGGTG | T | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01167.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0013others(10): Show | a0001c0001t0007g0012 a0001c0001t0007g0024 a0001c0001t0007g0106 others(25): Show |
28 | 224 | 0.1250 | -7 | c.350 others(24): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434879 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 NA18906.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0032 | a0001c0001t0001g0094 a0001c0001t0001g0195 a0001c0001t0007g0081 others(2): Show |
5 | 200 | 0.0250 | -7 | c.77- others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202456063 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0005g0104 a0001c0001t0005g0155 a0001c0001t0005g0156 others(6): Show |
9 | 17 | 0.5294 | -7 | c.77- others(22): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMS1_chr10_42777795_42839937 | 42779045 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02572.hp2 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0038 a0001c0003t0001g0235 a0001c0003t0001g0236 others(3): Show |
7 | 231 | 0.0303 | -7 | c.-38 others(18): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 3749 | chr10 | TogoVar | |||||||
BMS1_chr10_42777795_42839937 | 42837535 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01516.hp2 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0007a0001c0008t0019 | a0001c0008t0007g0014 a0001c0008t0007g0154 a0001c0008t0007g0155 others(2): Show |
7 | 61 | 0.1148 | -7 | c.*64 others(18): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 2599 | chr10 | TogoVar | |||||||
BMX_chrX_15495807_15561519 | 15555201 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02293.hp1 HG02451.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0098 others(13): Show |
17 | 52 | 0.3269 | -7 | c.195 others(24): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar |